• Gene id: 126792

Gene Summary

• Gene Symbol: B3GALT6   Gene   UCSC   Ensembl
• Aliases: ALGAZ, EDSP2, EDSSPD2, SEMDJL1, beta3GalT6
• Gene name: beta-1,3-galactosyltransferase 6
• Alternate names: beta-1,3-galactosyltransferase 6, GAG GalTII, UDP-Gal:betaGal beta 1,3-galactosyltransferase 6, UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6, beta-1,3-GalTase 6, beta3Gal-T6, galac,
• Gene location: 1p36.33 (1232236: 1235040)     Exons: 1     NC_000001.11
• Gene summary(Entrez): The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encod
• OMIM: 615291

Protein Summary

• Protein general information: Q96L58  
  • Name: Beta 1,3 galactosyltransferase 6 (Beta 1,3 GalTase 6) (Beta3Gal T6) (Beta3GalT6) (EC 2.4.1.134) (GAG GalTII) (Galactosyltransferase II) (Galactosylxylosylprotein 3 beta galactosyltransferase) (UDP Gal:betaGal beta 1,3 galactosyltransferase polypeptide 6)
  • Length: 329  
  • Mass: 37138
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSV
  IRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFE
  FVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLV
  HYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLC
  KREVQLRLSYVYDWSAPPSQCCQRREGIP

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000368496
• Other Databases: GeneCards:  B3GALT6  Malacards:  B3GALT6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035250	UDP-galactosyltransferase activity	IBA	molecular function
GO:0016758	transferase activity, transferring hexosyl groups	IBA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IBA	biological process
GO:0008378	galactosyltransferase activity	IBA	molecular function
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0006486	protein glycosylation	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0047220	galactosylxylosylprotein 3-beta-galactosyltransferase activity	IEA	molecular function
GO:0030203	glycosaminoglycan metabolic process	TAS	biological process
GO:0047220	galactosylxylosylprotein 3-beta-galactosyltransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IEA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	IEA	biological process
GO:0005797	Golgi medial cisterna	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0030206	chondroitin sulfate biosynthetic process	IEA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0035250	UDP-galactosyltransferase activity	IDA	molecular function
GO:0005797	Golgi medial cisterna	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006024	glycosaminoglycan biosynthetic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
SEMD with joint laxity type	KEGG:H01494
Ehlers-Danlos syndrome, spondylodysplastic type	KEGG:H02239
SEMD with joint laxity type	KEGG:H01494
Ehlers-Danlos syndrome, spondylodysplastic type	KEGG:H02239
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)